Define a genetic mutation. Analyze and describe the different types of genetic mutations and their effects. Then discuss, in detail, the role played by DNA and RNA in genetic diseases. Assess and describe the breakthroughs, if any, in the treatment and management of genetic diseases.
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Simply put, a genetic mutation comes from a change in the DNA; this change can result from an extrachromosomal element, an alteration of the inherited nucleotide...
The basic building block of nucleic acids, such as DNA and RNA. It is an organic compound made up of nitrogenous, a sugar, and a phosphate group (http://www.biology-online.org/dictionary/Nucleotide)
...sequence of the genome in an organism, or even a virus.
Here are a few types of genetic mutations:
1. A mutation that trades one base for another such as encoding a different amino acid, thus effecting a small change in the protein produced. (An example of this is what occurs with the disease sickle cell anemia; this point mutation occurs inside one gene. Other diseases caused in the same manner are haemophilia, Tay-Sachs disease, and Cystic fibrosis)
2. A silent mutation: A change in a codon (set of 3 adjacent nucleotides that base pair with the corresponding anticodon of tRNA molecule that carries a particular amino acid, thereby specifying sequence and type of amino acids for protein synthesis) to one that encodes the same amino acid; with this there is no change in the protein produced.
3. A mutation, or change in amino-acid-coding to a single "stop" codon that causes the production of an incomplete protein which does not function.
A mutation effected by the loss of DNA
Insertions or deletions can occur in the codon that has the 3 bases. These changes, called frameshifts, scramble the message of a gene or genes.
There have been recent advancements in the study of genetic disease. For instance LGI2 has been isolated and identified as the gene that is responsible for epilepsy. MCF2L has been one gene that could lead to therapies in the treatment of osteoarthritis; PRPS1 is a gene linked to progressive hearing loss in males.
DNA is the first step in building proteins, which effect almost every facet of cell function. The next step in building a protein is transcribing DNA to RNA. If there is a genetic mutation (such as the aforementioned substitution, deletion, or frameshift mutations) the RNA template could potentially reflect that mutation,as will the tRNA, rRNA, mRNA, all the way up to the protein itself. A good example of this is the Lac Operon, which codes for the enzyme responsible for lactose catabolism. If a genetic mutation occurs on the Lac Operon and the enzyme is not manufactured in suffecient quantities a person is lactose intolerant.
Treating genetic illnesses is a very comlex topic. There are many useful links about biotechnology and genetics at this link: http://www.soinc.org/designer_genes_c
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